Canonical Allele Identifier: CA2320965288

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533567C= , CM000681.2:g.7533567C=	GRCh38
NC_000019.9:g.7598453C= , CM000681.1:g.7598453C=	GRCh37
NC_000019.8:g.7504453C=	NCBI36
NG_013374.1:g.4416C=
NG_015806.1:g.15958C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1620C= MANE Select	ENSP00000264079.5:p.Tyr540=
ENST00000264079.10:c.1620C=	ENSP00000264079.5:p.Tyr540=
ENST00000394321.9:n.1935C=
ENST00000599334.1:c.348C=
ENST00000602227.1:n.174C=
NM_020533.2:c.1620C=	NP_065394.1:p.Tyr540=
NM_020533.3:c.1620C= MANE Select	NP_065394.1:p.Tyr540=